Canonical Allele Identifier: CA7724103

Gene: POLG

Linked Data

• ClinVar Variation Id: 430382
• ClinVar RCV Id: RCV002524050
• dbSNP Id: rs776031396
• ExAC: 15:89860723 G / A
• gnomAD v2: 15-89860723-G-A
• gnomAD v3: 15-89317492-G-A
• gnomAD v4: 15-89317492-G-A
• MyVariant Identifiers: chr15:g.89860723G>A (hg19) ; chr15:g.89317492G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317492G>A , CM000677.2:g.89317492G>A	GRCh38
NC_000015.9:g.89860723G>A , CM000677.1:g.89860723G>A	GRCh37
NC_000015.8:g.87661727G>A	NCBI36
NG_008218.1:g.22304C>T
NG_011736.1:g.78530G>A , LRG_500:g.78530G>A
NG_008218.2:g.22304C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3527C>T	ENSP00000516154.1:p.Ser1176Leu
ENST00000268124.11:c.3527C>T MANE Select	ENSP00000268124.5:p.Ser1176Leu
ENST00000530292.3:c.3227C>T	ENSP00000432885.2:n.3227C>T
ENST00000635986.2:c.*597C>T	ENSP00000490653.2:n.*597C>T
ENST00000636774.1:c.*2131C>T	ENSP00000489799.1:n.*2131C>T
ENST00000637042.1:n.72-21C>T
ENST00000637238.1:c.2435C>T	ENSP00000490756.1:n.2435C>T
ENST00000637264.1:c.2555-16C>T
ENST00000666746.1:c.3104C>T
ENST00000672071.1:n.4729C>T
ENST00000672695.1:n.1306C>T
ENST00000672923.2:n.3527C>T
ENST00000268124.9:c.3527C>T	ENSP00000268124.5:p.Ser1176Leu
ENST00000442287.6:c.3527C>T	ENSP00000399851.2:p.Ser1176Leu
ENST00000526671.1:n.337C>T
ENST00000530292.2:c.710C>T	ENSP00000432885.1:n.710C>T
ENST00000631044.2:c.*2951C>T	ENSP00000486730.1:n.*2951C>T
NM_001126131.1:c.3527C>T	NP_001119603.1:p.Ser1176Leu
NM_002693.2:c.3527C>T	NP_002684.1:p.Ser1176Leu
NM_001126131.2:c.3527C>T	NP_001119603.1:p.Ser1176Leu
NM_002693.3:c.3527C>T MANE Select	NP_002684.1:p.Ser1176Leu